Details for: IFNAR1

Gene ID: 3454

Symbol: IFNAR1

Ensembl ID: ENSG00000142166

Description: interferon alpha and beta receptor subunit 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 281.3973
    Cell Significance Index: -43.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 174.4773
    Cell Significance Index: -44.2600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 102.6813
    Cell Significance Index: -41.7200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 102.0286
    Cell Significance Index: -48.1700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 92.3627
    Cell Significance Index: -47.5100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 71.7711
    Cell Significance Index: -48.1600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 43.7971
    Cell Significance Index: -41.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.5926
    Cell Significance Index: -46.3500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.9139
    Cell Significance Index: -45.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.8473
    Cell Significance Index: -46.7500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.5613
    Cell Significance Index: -35.5100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.6951
    Cell Significance Index: -19.0300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 1.9870
    Cell Significance Index: 12.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.6386
    Cell Significance Index: 85.3500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5459
    Cell Significance Index: 168.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.3582
    Cell Significance Index: 36.9700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1242
    Cell Significance Index: 225.5200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9929
    Cell Significance Index: 178.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9423
    Cell Significance Index: 115.8600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8743
    Cell Significance Index: 173.5000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8197
    Cell Significance Index: 42.5800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7921
    Cell Significance Index: 54.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7869
    Cell Significance Index: 108.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7269
    Cell Significance Index: 33.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6532
    Cell Significance Index: 234.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5992
    Cell Significance Index: 36.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5582
    Cell Significance Index: 304.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5421
    Cell Significance Index: 13.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4979
    Cell Significance Index: 23.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4444
    Cell Significance Index: 12.7400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4396
    Cell Significance Index: 12.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4393
    Cell Significance Index: 56.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4025
    Cell Significance Index: 177.9700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3454
    Cell Significance Index: 7.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3269
    Cell Significance Index: 226.0700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2336
    Cell Significance Index: 5.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2115
    Cell Significance Index: 36.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1955
    Cell Significance Index: 37.2000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1900
    Cell Significance Index: 18.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1424
    Cell Significance Index: 10.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1173
    Cell Significance Index: 9.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1050
    Cell Significance Index: 13.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1030
    Cell Significance Index: 4.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0946
    Cell Significance Index: 15.3900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0920
    Cell Significance Index: 1.7000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0824
    Cell Significance Index: 5.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0815
    Cell Significance Index: 1.5900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0755
    Cell Significance Index: 5.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0732
    Cell Significance Index: 4.1100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0260
    Cell Significance Index: 23.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0136
    Cell Significance Index: 0.8800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0126
    Cell Significance Index: 23.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0004
    Cell Significance Index: -0.2900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0026
    Cell Significance Index: -3.9400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.8100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0074
    Cell Significance Index: -0.2600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0104
    Cell Significance Index: -14.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0202
    Cell Significance Index: -12.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0210
    Cell Significance Index: -15.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0283
    Cell Significance Index: -21.4000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0339
    Cell Significance Index: -21.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0519
    Cell Significance Index: -5.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0592
    Cell Significance Index: -33.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0646
    Cell Significance Index: -29.3200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0675
    Cell Significance Index: -7.9600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0766
    Cell Significance Index: -11.1400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0885
    Cell Significance Index: -0.8200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1059
    Cell Significance Index: -5.5600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1138
    Cell Significance Index: -2.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1226
    Cell Significance Index: -25.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1233
    Cell Significance Index: -5.4600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1425
    Cell Significance Index: -41.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1758
    Cell Significance Index: -11.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2000
    Cell Significance Index: -6.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2105
    Cell Significance Index: -7.9700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2246
    Cell Significance Index: -26.1700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2296
    Cell Significance Index: -26.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2816
    Cell Significance Index: -7.8700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2835
    Cell Significance Index: -32.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3451
    Cell Significance Index: -9.0800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4346
    Cell Significance Index: -5.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4417
    Cell Significance Index: -45.9900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.4848
    Cell Significance Index: -7.2700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5135
    Cell Significance Index: -8.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5264
    Cell Significance Index: -41.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5282
    Cell Significance Index: -11.2500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5320
    Cell Significance Index: -14.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5807
    Cell Significance Index: -12.7200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5930
    Cell Significance Index: -9.9300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.6432
    Cell Significance Index: -10.8400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.6468
    Cell Significance Index: -11.4300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6480
    Cell Significance Index: -7.7300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.7335
    Cell Significance Index: -19.6200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7385
    Cell Significance Index: -37.3200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.7387
    Cell Significance Index: -21.7000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7764
    Cell Significance Index: -47.6000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.8159
    Cell Significance Index: -11.7400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8283
    Cell Significance Index: -21.2900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.8712
    Cell Significance Index: -6.7200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IFNAR1 is a single-pass transmembrane receptor that belongs to the class II cytokine receptor family. It is composed of two subunits, IFNAR1 and IFNAR2, which assemble to form a functional receptor. The IFNAR1 subunit is responsible for binding to IFN-α/β ligands, while the IFNAR2 subunit mediates signaling through the JAK/STAT pathway. IFNAR1 is characterized by its high expression levels in various tissues, including the salivary gland, bladder, lung, and mammary gland. **Pathways and Functions:** IFNAR1 is involved in several signaling pathways, including: 1. **Type I Interferon Signaling Pathway:** IFNAR1 mediates the binding of IFN-α/β ligands, triggering the activation of the JAK/STAT pathway, which regulates the expression of interferon-stimulated genes (ISGs). 2. **Cytokine Signaling Pathway:** IFNAR1 interacts with other cytokine receptors, such as IL-6Rα and IL-10R, to modulate immune responses. 3. **Viral Infection Pathways:** IFNAR1 plays a critical role in the innate immune response against viral infections, including respiratory syncytial virus (RSV) and SARS-CoV-2. 4. **Immune System Pathways:** IFNAR1 is involved in the regulation of immune cell functions, including the activation of T cells and the production of cytokines. **Clinical Significance:** The IFNAR1 gene has significant implications for the treatment of various diseases, including: 1. **Viral Infections:** IFNAR1 is a potential therapeutic target for the treatment of viral infections, such as RSV and SARS-CoV-2. 2. **Cancer:** IFNAR1 is involved in the regulation of immune responses in cancer, making it a potential target for immunotherapies. 3. **Autoimmune Diseases:** IFNAR1 plays a role in the regulation of immune responses in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 4. **Infectious Diseases:** IFNAR1 is involved in the regulation of immune responses to infectious diseases, such as tuberculosis and malaria. In conclusion, the IFNAR1 gene plays a critical role in the regulation of immune responses, particularly in the context of viral infections and cancer. Further research is needed to fully understand the mechanisms of IFNAR1 signaling and its clinical implications.

Genular Protein ID: 552340339

Symbol: INAR1_HUMAN

Name: Interferon alpha/beta receptor 1

UniProtKB Accession Codes:

P17181 B2R6L9 B4DNT3 D3DSF0 Q53GW9 Q53H11 Q6PKD7 Q7M4L2 Q8WTZ2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 16 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 15 DrugCentral 1 ELM 1 EMBL 15 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 5 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2153461

Title: Genetic transfer of a functional human interferon alpha receptor into mouse cells: cloning and expression of its cDNA.

PubMed ID: 2153461

DOI: 10.1016/0092-8674(90)90738-z

PubMed ID: 1370833

Title: The structure of the human interferon alpha/beta receptor gene.

PubMed ID: 1370833

DOI: 10.1016/s0021-9258(18)45950-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7813427

Title: Differential tyrosine phosphorylation of the IFNAR chain of the type I interferon receptor and of an associated surface protein in response to IFN-alpha and IFN-beta.

PubMed ID: 7813427

DOI: 10.1002/j.1460-2075.1994.tb06932.x

PubMed ID: 8307198

Title: Identification of mRNAs encoding two different soluble forms of the human interferon alpha-receptor.

PubMed ID: 8307198

DOI: 10.1016/0014-5793(94)80287-4

PubMed ID: 7526154

Title: Direct binding to and tyrosine phosphorylation of the alpha subunit of the type I interferon receptor by p135tyk2 tyrosine kinase.

PubMed ID: 7526154

DOI: 10.1128/mcb.14.12.8133-8142.1994

PubMed ID: 7665574

Title: Cloning and expression of a long form of the beta subunit of the interferon alpha beta receptor that is required for signaling.

PubMed ID: 7665574

DOI: 10.1074/jbc.270.37.21606

PubMed ID: 9121453

Title: Functional subdomains of STAT2 required for preassociation with the alpha interferon receptor and for signaling.

PubMed ID: 9121453

DOI: 10.1128/mcb.17.4.2048

PubMed ID: 10049744

Title: Formation of a uniquely stable type I interferon receptor complex by interferon beta is dependent upon particular interactions between interferon beta and its receptor and independent of tyrosine phosphorylation.

PubMed ID: 10049744

DOI: 10.1006/bbrc.1998.0105

PubMed ID: 14532120

Title: SCF(HOS) ubiquitin ligase mediates the ligand-induced down-regulation of the interferon-alpha receptor.

PubMed ID: 14532120

DOI: 10.1093/emboj/cdg524

PubMed ID: 15337770

Title: Phosphorylation and specific ubiquitin acceptor sites are required for ubiquitination and degradation of the IFNAR1 subunit of type I interferon receptor.

PubMed ID: 15337770

DOI: 10.1074/jbc.m407082200

PubMed ID: 18056411

Title: Site-specific ubiquitination exposes a linear motif to promote interferon-alpha receptor endocytosis.

PubMed ID: 18056411

DOI: 10.1083/jcb.200706034

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19561067

Title: Palmitoylation of interferon-alpha (IFN-alpha) receptor subunit IFNAR1 is required for the activation of Stat1 and Stat2 by IFN-alpha.

PubMed ID: 19561067

DOI: 10.1074/jbc.m109.021915

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 24075985

Title: A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses.

PubMed ID: 24075985

DOI: 10.1016/j.celrep.2013.08.025

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 31270247

Title: Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

PubMed ID: 31270247

DOI: 10.1084/jem.20182295

PubMed ID: 33811647

Title: TRIM10 binds to IFN-alpha/beta receptor 1 to negatively regulate type I IFN signal transduction.

PubMed ID: 33811647

DOI: 10.1002/eji.202049073

PubMed ID: 21854986

Title: Structural linkage between ligand discrimination and receptor activation by type I interferons.

PubMed ID: 21854986

DOI: 10.1016/j.cell.2011.06.048

PubMed ID: 24704786

Title: Structural basis of recognition of interferon-alpha receptor by tyrosine kinase 2.

PubMed ID: 24704786

DOI: 10.1038/nsmb.2807

PubMed ID: 32972995

Title: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

PubMed ID: 32972995

DOI: 10.1126/science.abd4570

PubMed ID: 33252644

Title: A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

PubMed ID: 33252644

DOI: 10.1093/cid/ciaa1790

PubMed ID: 35442418

Title: A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.

PubMed ID: 35442418

DOI: 10.1084/jem.20220028

Sequence Information:

  • Length: 557
  • Mass: 63525
  • Checksum: 24A01779DB7F356F
  • Sequence:
    • MMVVLLGATT LVLVAVAPWV LSAAAGGKNL KSPQKVEVDI IDDNFILRWN RSDESVGNVT 
FSFDYQKTGM DNWIKLSGCQ NITSTKCNFS SLKLNVYEEI KLRIRAEKEN TSSWYEVDSF 
TPFRKAQIGP PEVHLEAEDK AIVIHISPGT KDSVMWALDG LSFTYSLVIW KNSSGVEERI 
ENIYSRHKIY KLSPETTYCL KVKAALLTSW KIGVYSPVHC IKTTVENELP PPENIEVSVQ 
NQNYVLKWDY TYANMTFQVQ WLHAFLKRNP GNHLYKWKQI PDCENVKTTQ CVFPQNVFQK 
GIYLLRVQAS DGNNTSFWSE EIKFDTEIQA FLLPPVFNIR SLSDSFHIYI GAPKQSGNTP 
VIQDYPLIYE IIFWENTSNA ERKIIEKKTD VTVPNLKPLT VYCVKARAHT MDEKLNKSSV 
FSDAVCEKTK PGNTSKIWLI VGICIALFAL PFVIYAAKVF LRCINYVFFP SLKPSSSIDE 
YFSEQPLKNL LLSTSEEQIE KCFIIENIST IATVEETNQT DEDHKKYSSQ TSQDSGNYSN 
EDESESKTSE ELQQDFV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.